Generalized epilepsy with febrile seizures plus

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Generalized epilepsy with febrile seizures plus
File:SCN2A GEFS plus.png
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Febrile seizures, generalized tonic-clonic seizures, myoclonic seizures, absence seizures
Complications	N/A
Onset	Infancy or early childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutations in SCN1A, SCN1B, SCN2A, GABRG2, GABRD
Risks	Family history of epilepsy
Diagnosis	EEG, genetic testing
Differential diagnosis	Dravet syndrome, Lennox-Gastaut syndrome
Prevention	N/A
Treatment	Anticonvulsants, ketogenic diet, vagus nerve stimulation
Medication	N/A
Prognosis	Variable, often improves with age
Frequency	Rare
Deaths	N/A

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a familial epilepsy syndrome characterized by a spectrum of seizure types, including febrile seizures and afebrile generalized seizures. It is a genetic disorder that affects the nervous system, often beginning in infancy or early childhood.

Clinical Features

GEFS+ is marked by a variety of seizure types. The most common are febrile seizures, which are convulsions triggered by fever in young children. In addition to febrile seizures, individuals with GEFS+ may experience other types of seizures, such as absence seizures, myoclonic seizures, and tonic-clonic seizures.

Genetics

GEFS+ is primarily caused by mutations in genes that encode for ion channels, which are crucial for the proper functioning of neurons. The most commonly affected genes include:

SCN1A

The SCN1A gene encodes the alpha subunit of the voltage-gated sodium channel. Mutations in this gene are a major cause of GEFS+ and are also associated with more severe epilepsy syndromes such as Dravet syndrome.

SCN2A

The SCN2A gene encodes another subunit of the sodium channel. Mutations in SCN2A can lead to a range of epilepsy phenotypes, including GEFS+.

GABRG2

The GABRG2 gene encodes a subunit of the GABA_A receptor, which is involved in inhibitory neurotransmission. Mutations in this gene can disrupt normal neuronal inhibition, contributing to the development of seizures.

SCN1B

File:Sodium channel beta GEFS plus.png

Illustration of the sodium channel beta subunit related to GEFS+

The SCN1B gene encodes the beta subunit of the sodium channel. Mutations in SCN1B can alter the function of sodium channels, leading to increased neuronal excitability and seizures.

Diagnosis

The diagnosis of GEFS+ is based on clinical evaluation, family history, and genetic testing. Genetic testing can identify mutations in the genes associated with the syndrome, confirming the diagnosis.

Treatment

Treatment for GEFS+ typically involves the use of antiepileptic drugs (AEDs) to control seizures. The choice of medication depends on the specific types of seizures experienced by the individual. In some cases, lifestyle modifications and avoidance of seizure triggers may also be recommended.

Prognosis

The prognosis for individuals with GEFS+ varies. Some individuals may outgrow their seizures, while others may continue to experience seizures into adulthood. The severity of the condition can also vary widely among affected individuals.

See Also

• Epilepsy
• Febrile seizures
• Dravet syndrome
• Ion channel